EMC6 — 12 ClinVar variants
All ClinVar germline EMC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
12 Uncertain significance
Full EMC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMC6 p.Arg20Gln Uncertain significance Single submitter
- EMC6 p.Arg72Lys Uncertain significance Single submitter
- EMC6 p.Arg8Leu Uncertain significance Single submitter
- EMC6 p.Gly42Arg Uncertain significance Single submitter
- EMC6 p.Gly92Val Uncertain significance Single submitter
- EMC6 p.Leu49Val Uncertain significance Single submitter
- EMC6 p.Pro83Ala Uncertain significance Single submitter
- EMC6 p.Thr95Pro Uncertain significance Single submitter
- EMC6 p.Val19Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All EMC6 variants
Uncertain significance 12
- p.Arg20Gln Single submitter ⚠
- p.Arg72Lys Single submitter ⚠
- p.Arg8Leu Single submitter ⚠
- p.Gly42Arg Single submitter ⚠
- p.Gly92Val Single submitter ⚠
- p.Leu49Val Single submitter ⚠
- p.Leu84Phe Single submitter ⚠
- p.Phe99Leu Single submitter ⚠
- p.Pro83Ala Single submitter ⚠
- p.Thr95Pro Single submitter ⚠
- p.Val19Ala Single submitter ⚠
- p.Val19Leu Single submitter ⚠